Annotation Detail
Information
- Associated Genes
- CARD8
- Associated Variants
-
CARD8 p.Phe102Ile (p.F102I)
(
ENST00000391898.7,
ENST00000447740.6,
ENST00000519940.6,
ENST00000520015.5,
ENST00000520153.5,
ENST00000520753.5,
ENST00000521613.5,
ENST00000651546.1 )
CARD8 p.Phe102Ile (p.F102I) ( ENST00000391898.7, ENST00000447740.6, ENST00000519940.6, ENST00000520015.5, ENST00000520153.5, ENST00000520753.5, ENST00000521613.5, ENST00000651546.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001184900.3(CARD8):c.304T>A (p.Phe102Ile) AND not provided
- ClinVar Allele ID
- 1158627
- ClinVar RefSeq Alternation Syntax
- NM_001184903.1:c.304T>A
- ClinVar RefSeq Alternation Syntax
- NM_014959.5:c.154T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351791.2:c.30T>A
- ClinVar RefSeq Alternation Syntax
- NM_001184900.3:c.304T>A
- ClinVar RefSeq Alternation Syntax
- NR_147707.1:n.560T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351788.2:c.154T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351783.2:c.154T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351787.2:c.30T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351786.2:c.-185T>A
- ClinVar RefSeq Alternation Syntax
- NR_033680.1:n.308T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351784.2:c.30T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351782.2:c.304T>A
- ClinVar RefSeq Alternation Syntax
- NR_033678.1:n.308T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351790.2:c.102T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351789.2:c.154T>A
- ClinVar RefSeq Alternation Syntax
- NR_033679.1:n.347T>A
- ClinVar RefSeq Alternation Syntax
- NM_001184901.1:c.154T>A
- ClinVar RefSeq Alternation Syntax
- NM_001184902.2:c.304T>A
- ClinVar RefSeq Alternation Syntax
- NM_001351792.2:c.30T>A
- ClinVar RefSeq Alternation Syntax
- NM_001365950.1:c.30T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001514794
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs